Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and PCDH19[original query] |
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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of medical genetics 2010 Mar 47 (3): 211-6. Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS genetics 2009 Feb 5 (2): e1000381. Depienne Christel, Bouteiller Delphine, Keren Boris, Cheuret Emmanuel, Poirier Karine, Trouillard Oriane, Benyahia Baya, Quelin Chloé, Carpentier Wassila, Julia Sophie, Afenjar Alexandra, Gautier Agnès, Rivier François, Meyer Sophie, Berquin Patrick, Hélias Marie, Py Isabelle, Rivera Serge, Bahi-Buisson Nadia, Gourfinkel-An Isabelle, Cazeneuve Cécile, Ruberg Merle, Brice Alexis, Nabbout Rima, Leguern Er |
Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 2010 Aug 75 (7): 646-53. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human mutation 2011 Jan 32 (1): E1959-75. Depienne Christel, Trouillard Oriane, Bouteiller Delphine, Gourfinkel-An Isabelle, Poirier Karine, Rivier François, Berquin Patrick, Nabbout Rima, Chaigne Denys, Steschenko Dominique, Gautier Agnès, Hoffman-Zacharska Dorota, Lannuzel Annie, Lackmy-Port-Lis Marilyn, Maurey Hélène, Dusser Anne, Bru Marie, Gilbert-Dussardier Brigitte, Roubertie Agathe, Kaminska Anna, Whalen Sandra, Mignot Cyril, Baulac Stéphanie, Lesca Gaetan, Arzimanoglou Alexis, LeGuern Er |
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology 2012 Dec 54 (12): 1144-8. Appenzeller Silke, Helbig Ingo, Stephani Ulrich, Häusler Martin, Kluger Gerhard, Bungeroth May, Müller Stefanie, Kuhlenbäumer Gregor, van Baalen Andre |
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics 2016 Aug . Liu Aijie, Xu Xiaojing, Yang Xiaoling, Jiang Yuwu, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy. Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
PCDH19-related epilepsy in two mosaic male patients. Epilepsia 2016 Jan . Terracciano Alessandra, Trivisano Marina, Cusmai Raffaella, De Palma Luca, Fusco Lucia, Compagnucci Claudia, Bertini Enrico, Vigevano Federico, Specchio Nico |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia 2018 1 59 (3): 679-689. Smith Lacey, Singhal Nilika, El Achkar Christelle M, Truglio Gessica, Rosen Sheidley Beth, Sullivan Joseph, Poduri Annapur |
Somatic mosaic deletions involving SCN1A cause Dravet syndrome. American journal of medical genetics. Part A 2018 1 176 (3): 657-662. Nakayama Tojo, Ishii Atsushi, Yoshida Takeshi, Nasu Hirosato, Shimojima Keiko, Yamamoto Toshiyuki, Kure Shigeo, Hirose Shinic |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing. Annals of clinical and laboratory science 2020 10 50 (5): 625-637. Lee Jiwon, Lee Chung, Park Woong-Yang, Lee Jeeh |
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. Neurogenetics 2021 5 22 (2): 105-115. Rampazzo Ana Carla Mondek, Dos Santos Rafael Rodrigues Pinheiro, Maluf Fernando Arfux, Simm Renata Faria, Marson Fernando Augusto Lima, Ortega Manoela Marques, de Aguiar Paulo Henrique Pir |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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- Page last updated:Apr 22, 2024
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